tbuckley/cabot-search huggingface dataset:
Abstract 4156: Multiple rare germline variants in a thyroid cancer family
Authors: Taina T. Nieminen, Daniel F. Comiskey, Yanqiang Wang, Sandya Liyanarachchi, Pamela Brock, Paivi Peltomaki, Huiling He, Albert de la Chapelle
Journal: Cancer Research (2019)

Abstract Thyroid cancer is the 12th most common cancer in the USA. Four main types exist: the majority (85-90%) is papillary thyroid cancer (PTC). Familial form of PTC represents 5 to 15 % of all thyroid cancers. We have access to 155 PTC families including clinical data and biological samples. Our aim was to search for highly penetrant gene variants in 17 PTC families. Data from one of the families in which PTC is segregating in three generations are described here. Whole genome sequencing was performed in three family members affected by PTC. Sanger sequencing at germline DNA and RNA levels followed by TOPO cloning was used to study the effects of mutations. We found 4 different either novel or ultra-rare mutations in the ITGAD, AARS and PDPR genes on chromosome 16 (Table). All mutations segregated perfectly with PTC in family members (n=4) and were absent in unaffected members (n=3). We Sanger sequenced cDNA from two of the PTC patients and cloned the products into the pCR 2.1-® TOPO vector. Based on the cDNA sequencing and cloning results, all of the mutations will create a premature stop codon leading to a truncated protein. We will verify the effects of the mutations by protein analysis as well. In addition, structural variation analysis will be done to exclude large genomic rearrangements. The germline events leading to PTC are neither well known nor extensively researched. When occurring in families PTC regularly shows autosomal dominant inheritance with incomplete penetrance. Only a few of probable mutations have been reported. Nevertheless, our finding of the truncating mutations in 3 genes on chromosome 16 that are cosegregating with PTC in a 3-generation family is surprising. Even more so: is the localization of the three genes in one chromosome coincidental? Preliminary findings in some of the other 16 PTC families suggest that the occurrence of more than one truncating mutation is not a unique event. We look forward to answer the question whether combination of two or more mutant genes can be responsible for one disease segregating in families. Citation Format: Taina T. Nieminen, Daniel F. Comiskey, Yanqiang Wang, Sandya Liyanarachchi, Pamela Brock, Paivi Peltomaki, Huiling He, Albert de la Chapelle. Multiple rare germline variants in a thyroid cancer family [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 4156.
ANATOMICAL CONCEPTS AND CLINICAL RESEARCH
Journal: JAMA (1960)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Environmental fate and aquatic toxicology studies on phthalate esters.
Authors: E F Group
Journal: Environmental Health Perspectives (1986)

A comprehensive environmental fate and effects testing program, sponsored by the Chemical Manufacturers Association (CMA) Phthalate Esters Program Panel, has been completed. Based on the results, a preliminary safety assessment has shown that all of the 14 commercially important phthalates tested have sufficiently high safety factors to demonstrate low potential for adverse environmental effects. This program comprised acute toxicity studies on nine representative species of aquatic life, chronic reproduction studies on Daphnia magna, biodegradation (fate) testing, and physicochemical property (mobility) determinations on 14 phthalate esters. The objectives of this program were to determine for each test compound: The concentration at which effects on aquatic life might occur, the potential for bioconcentration in aquatic life, and the relative persistence in the environment. These data would provide the basis for an environmental safety assessment and would identify potential effects that might require further investigation. A total of 195 individual studies were carried out. Tests on a wide variety of aquatic organisms representing different food chain levels in both fresh and salt water environments showed that no single test species was unusually sensitive to the test materials. The higher molecular weight (longer side-chain) phthalates exhibited no toxic effects up to their limits of water solubility in the test systems. Even though the lower molecular weight, more water-soluble phthalates produced toxic effects below their limits of water solubility, no product exhibited unusually severe effects of concern.(ABSTRACT TRUNCATED AT 250 WORDS)
OS11.4 Adult IDH wild-type lower-grade gliomas should be further stratified
Authors: A. K. Chan, A. Aibaidula, Z. F. Shi, Y. X. Li, R. Q. Zhang, R. R. Yang, K. K. Li, N. Y. Chung, L. F. Zhou, J. S. Wu, H. Chen, H. K. Ng
Journal: Neuro-Oncology (2017)

IDH wild-type astrocytoma is described as a provisional entity within the new WHO classification. Some groups believe that IDH wild-type lower-grade gliomas, when interrogated for other biomarkers, will mostly turn out to be glioblastoma. We hypothesize that not all IDH wild-type lower-grade gliomas have very poor outcomes and the group could be sub-stratified prognostically. 718 adult WHO Grade II and III gliomas from our hospitals were re-reviewed and tested for IDH1/2 mutations. 166 IDH wild-type cases were identified for further studies and EGFR and MYB amplifications, mutations of histone H3F3A, TERT promoter and BRAF were examined. EGFR amplification, BRAF and H3F3A mutations were observed in 13.3%, 8.6% and 9.1% respectively, in a mutually exclusive pattern in IDH wild-type lower-grade gliomas. TERTp mutations were detected in 26.4% of cases. Favorable outcome was observed in tumors with oligodendroglial phenotype, grade II histology and total resection. Independent adverse prognostic values of older age, non-total resection, grade III histology, EGFR amplification, and H3F3A mutation were confirmed by multivariate analysis. Tumors were further classified into “molecularly” high grade (harboring EGFR, H3F3A or TERTp) (median OS=1.2 years) and lower-grade (lacking all of the three) (median OS=7.6 years) with independent prognostic relevance. The most favorable survival was noted in molecularly lower-grade gliomas with MYB amplification. In summary, adult IDH wild-type lower-grade gliomas are prognostically heterogeneous and do not have uniformly poor prognosis. Clinical information and additional markers including MYB, EGFR, TERTp and H3F3A should be examined to delineate bad and good prognostic groups.
Cultures of blood drawn by catheters vs venipuncture
Authors: A. Tonnesen
Journal: JAMA (1976)

Cultures of blood drawn through indwelling intravascular venous and arterial cannulas were compared with those of blood drawn simultaneously by percutaneous venipuncture. In 92% of 174 comparisons, the results were identical. Cultures of blood drawn through indwelling intravascular catheters are as reliable as those of percutaneously obtained samples. In addition, the speed, ease, and lack of trauma in obtaining blood for cultures in critically ill patients further recommends this technique. (<i>JAMA</i>235:1877, 1976)
Occupational medicine
Authors: J. F. McCahan
Journal: JAMA (1980)

<h3>Occupational Safety and Health Act</h3> Frustrations and conflicting views of priorities in occupational medicine characterize the past decade. The Occupational Safety and Health Act (OSHAct) of 1970 set the stage for much of the turmoil that evolved, and it affected an estimated 60 million employees in approximately 5 million establishments. The Department of Labor under the OSHAct was charged with the responsibilities of setting standards and enforcing them; the Occupational Safety and Health Administration (OSHA) was created for this purpose. The then Department of Health, Education, and Welfare (DHEW) inherited new tasks in safety and health research, training, and employee education. The federal courts were granted jurisdiction in enforcement proceedings brought under the act. For all employers throughout the country, there were problems in determining what the act required and how they could remain in compliance. New agencies were created to perform specific functions. The Occupational Safety and Health Review
Identifying suicidal ideation in general medical patients
Authors: L. Cooper-Patrick
Journal: JAMA (1994)

<h3>Objectives.</h3> —To describe characteristics of general medical patients with suicidal ideation and to develop an efficient clinical strategy for identifying these patients. <h3>Design.</h3> —Cross-sectional analysis of data without intervention. <h3>Setting.</h3> —A representative sample of community respondents interviewed as part of the National Institute of Mental Health Epidemiologic Catchment Area surveys. <h3>Subjects.</h3> —A total of 6041 individuals who reported receiving care in general medical settings in the 6 months preceding the baseline interview. <h3>Main Outcome Measure.</h3> —Suicidal ideation within the year preceding the baseline interview. <h3>Results.</h3> —A total of 154 patients (2.6%) had experienced suicidal thoughts within the previous year. In multivariate analyses, the following sociodemographic factors were significantly associated with having suicidal ideation: being white (odds ratio [OR], 2.8;<i>P</i>&lt;.001) relative to African American, separated or divorced (OR, 1.8;<i>P</i>=.03) relative to married, and aged 18 to 30 years (OR, 2.3;<i>P</i>=.02) or aged 31 to 50 years (OR, 2.1;<i>P</i>=.03) relative to those older than 65 years. Gender, educational level, and socioeconomic status were not statistically associated with suicidal ideation. Psychiatric disorders significantly associated with suicidal ideation were major depression (OR, 10.3;<i>P</i>&lt;.001), panic disorder (OR, 5.2;<i>P</i>&lt;.001), alcohol disorder (OR, 2.0;<i>P</i>=.04), and phobic disorder (OR, 1.6;<i>P</i>=.02) within the previous year. However, only 34% of respondents with suicidal ideation met criteria for major depression. With the aid of stepwise logistic regression, a four-item screening questionnaire, the Suicidal Ideation Screening Questionnaire, was developed to predict patients with suicidal ideation. Likelihood ratios for suicidal ideation increased from 0.21 to 32.8 with more positive responses to questions concerning symptoms of hopelessness, guilt, depressed mood, and sleep disturbances. <h3>Conclusions.</h3> —If the results from the four-item screen are reproduced in a clinical setting, general medical patients with a high likelihood for suicidal ideation may be identified with a brief screening questionnaire. This screen would have greater sensitivity than would be achieved by assessing suicidal ideation only in those patients who meet criteria for a distinct psychiatric disorder. (<i>JAMA</i>. 1994;272:1757-1762)
“Characterisation of patients with interstitial pneumonia with autoimmune features.” Justin M. Oldham, Ayodeji Adegunsoye, Eleanor Valenzi, Cathryn Lee, Leah Witt, Lena Chen, Aliya N. Husain, Steven Montner, Jonathan H. Chung, Vincent Cottin, Aryeh Fischer, Imre Noth, Rekha Vij and Mary E. Strek. Eur Respir J 2016; 47: 1767–1775.
Journal: European Respiratory Journal (2017)

In the results section, third paragraph, in the following sentence, the "greater than or equal to" symbols were changed to "less than or equal to" in error: "An ANA ⩾ 1:320 (or nucleolar or centromere pattern of any titre) was the most common serological finding (77.6%), followed by SSA (16.6%) and rheumatoid factor ⩾ ×2 upper limit of normal (13%)."The same erroneous change was also made three times in table 3.
Diagnostic Endoscopic Retrograde Cholangiopancreatography
Authors: S. Shimizu, H. Kutsumi, S. Fujimoto, K. Kawai
Journal: Endoscopy (1999)

Endoscopic retrograde cholangiopancreatography (ERCP) is still a gold standard in the diagnostic work-up of the pancreaticobiliary system. However, the problem of post-ERCP pancreatitis has not yet been solved. Since the appearance of magnetic resonance cholangiopancreatography (MRCP), there has been a trend for it to replace ERCP as an imaging tool. At present, MRCP equipment is not available at every institution. In addition, MRCP images are not satisfactorily comparable to those provided by ERCP, although technological advances will fill this gap in the near future. If this is achieved, diagnostic ERCP may be reduced to the specific tasks of obtaining histological and cytological materials, and for functional studies
The Diet, Exercise and Weight Loss Intervention Trial (DEW-IT)
Authors: Edgar R Miller, Deborah R Young, Thomas P Erlinger, Megan L Jehn, Jeanne Charleston, Lawrence J Appel
Journal: Circulation (2001)

0009 Background - Certain lifestyle modifications (weight loss, sodium reduction, adoption of the DASH diet, and increased exercise) when administered separately, can lower blood pressure. However, the effects on blood pressure of combining all of these therapies in adults on blood pressure lowering medications is unknown. Methods - In a randomized controlled feeding study, 44 hypertensive obese adults, taking a single daily blood pressure lowering medication, were randomized for 9 weeks to a lifestyle or monitoring group. The lifestyle group was fed a hypocaloric version of the DASH diet (high in fruits, vegetables and low-fat dairy products) with reduced sodium (100 mmol/day). This group also exercised at moderate intensity 3 times per week. The monitoring group received information only. The primary outcome was change in 24 hour ambulatory blood pressure. Results - 43 of 44 completed the study. Net mean weight loss in the lifestyle group was 12.3 pounds. Compared with the monitoring group, the lifestyle group had significant reductions in 24 hour blood pressures with greatest reductions occurring while awake ( TABLE). Conclusions -A comprehensive lifestyle intervention is extremely effective at lowering blood pressure in hypertensive adults taking blood pressure lowering medications. Table 1.
Christmas and the Generation Gap: Letter to a New Granddaughter
Authors: J. R. E.
Journal: Annals of Internal Medicine (1968)

Editorials1 December 1968Christmas and the Generation Gap: Letter to a New GranddaughterJ. R. E.J. R. E.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-69-6-1322 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDear Miranda,Your arrival a few weeks ago was an event of great joy to your parents and to the whole family. You also gave a big lift to your Grandfather in his capacity as Editor of the ANNALS. Each year as Christmas approaches he looks around the human scene for signs of hope, and each year such signs seem to be a little harder to find. This year, Miranda, the world outside your bassinet is really in a turmoil—and I don't mean just the problem of getting all those diapers clean and dry! My generation has made a social... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 December 1968Volume 69, Issue 6Page: 1322-1325 Issue Published: 1 December 1968 PDF DownloadLoading ...
Robert E. Watt (1774-1819) bibliographer Britannica
Journal: JAMA (1966)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
The McConnell missile accident. Clinical spectrum of nitrogen dioxide exposure
Authors: C. C. Yockey
Journal: JAMA (1980)

Twenty-four men were refueling a missile when a large spill of oxidizer occurred. Three crewmen were exposed to very high concentrations of the oxides of nitrogen. One died within minutes. Severe respiratory distress syndrome developed in the other two, one of whom survived. Twenty-one other workers were exposed to minimal to moderate concentrations of the gas. Most remained asymptomatic while six had shortness of breath, cough, or hemoptysis. The three with persistent symptoms received corticosteroid therapy; the complaints resolved in two. Corticosteroid therapy for four asymptomatic patients who had moderate hypoxemia two weeks after the accident may have aborted the second stage of nitrogen dioxide injury. Six patients with minimal exposure had persisting headaches, visual disturbances, and emotional difficulties. These latter findings may represent an unusual complication of exposure to these gases. (<i>JAMA</i>244:1221-1223, 1980)
Direct evidence for cytotoxicity associated with expression of hepatitis delta virus antigen
Authors: S Cole
Journal: Hepatology (1991)

It has been postulated that hepatocyte injury resulting from infection with hepatitis D virus may be caused by a direct virus cytotoxicity in contrast to immune-mediated injury associated with hepatitis B virus. We have transfected HeLa and HepG2 continuous cell lines with a recombinant plasmid containing the hepatitis D antigen gene under the inducible control of the human metallothionein promoter. The addition of zinc to the cell culture medium then led to the expression of hepatitis D antigen associated with, in the short term, a significant reduction in the rate of RNA but not DNA synthesis and, in the longer term, cell death. The necrotic cells had pyknotic nuclei and shrunken eosinophilic cytoplasm; these necrotic cells resembled the apoptotic bodies seen in hepatitis D virus–related hepatitis. The level of hepatitis D antigen in individual cells that produced these changes was similar to the level of hepatitis D antigen in hepatocytes from a chimpanzee with acute hepatitis D virus infection. We conclude that the expression of hepatitis D antigen resulted in significant cytotoxic changes in these cells, providing strong support for the view that hepatitis D antigen may be specifically cytotoxic to infected hepatocytes in vivo. (HEPATOLOGY 1991;13:845–851.)
"A New Operative Method for Exposing the Seminal Vesicles and Prostate for Extirpation."
Authors: John S. Pyle
Journal: JAMA (1901)

Toledo, Ohio, June 4, 1901. <h3>To the Editor:</h3> —In the May 4 issue ofThe Journalmy attention has been called to an article by Dr. Eugene Fuller, of New York, on the subject of "A New Operative Method for Exposing the Seminal Vesicles and Prostate for Extirpation." Inasmuch as Dr. Fuller's assumptions are based upon work which originated, so far as I have any definite information, with myself more than nine years ago, and was published in the<i>New York Medical Record</i>, Aug. 6, 1892, I feel that he has done me an injustice to publish a report of "a new method" wherein he describes an operation exactly like my own, with the unimportant change of the patient from the dorsal to the ventral decubitus. Does changing a patient from the dorsal to the ventral position give an operator the right to lay claim to all the work that
Tumor-Damaging Capacity of Plant Materials. I. Plants Used as Cathartics
Authors: Morris Belkin, Dorothea B. Fitzgerald
Journal: JNCI Journal of the National Cancer Institute (1952)

Journal Article Tumor-Damaging Capacity of Plant Materials. I. Plants Used as Cathartics Get access Morris Belkin, Morris Belkin Laboratory of Chemical Pharmacology, National Cancer Institute3, Bethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar Dorothea B. Fitzgerald Dorothea B. Fitzgerald Laboratory of Chemical Pharmacology, National Cancer Institute3, Bethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 13, Issue 1, August 1952, Pages 139–155, https://doi.org/10.1093/jnci/13.1.139 Published: 01 August 1952 Article history Received: 07 April 1952 Published: 01 August 1952
Assessment of Public Health Computer Readiness for 2000—United States, 1999
Journal: JAMA (1999)

Computer software, equipment, and other devices that contain embedded microchips that store and process dates may use two-digit years (e.g., 99 for 1999) to reduce data entry burden and save electronic storage space; these devices may not work properly when the year 2000 (Y2K) arrives. Many aspects of health-care delivery, public health surveillance and research, and critical infrastructure components (e.g., utilities and transportation services) depend on vulnerable computers. To ensure that critical public health functions will not be compromised because of Y2K problems, CDC assessed state public health agency readiness for Y2K. This report describes the findings of the assessment, which indicate that state health agencies that responded are substantially ready for Y2K and plan to reach full readiness in 1999.
Nutmeg Mydriasis
Authors: Ahmad Ahmad
Journal: JAMA (1975)

<h3>To the Editor.—</h3> It has been suggested that when nutmeg is ingested in quantities sufficient to have a systemic effect, the pupils will dilate.<sup>12</sup>There are many cases of nutmeg poisoning in humans in the literature,but we were able to find only seven cases in which the condition of the pupils was mentioned.<sup>2-7</sup>This in itself may be of some importance. These seven cases are summarized in the Table. In three patients, the pupils were described as normal. In two patients the pupils were dilated; patient 6 was described as "agitated and apprehensive" during the examination, and patient 1 was described as "weak." In two, the pupils were constricted. In one case, the patient was semistuporous during the examination; in the other, the observation was made by one of us, who also took nutmeg. He apparently looked in the mirror and noted that even though he had